General Structure Information
| PDB ID | 2pe4 |
| HGNC Gene Label(s) | HYAL1 |
| Structure Name | structure of human hyaluronidase 1, a hyaluronan hydrolyzing enzyme involved in tumor growth and angiogenesis |
| Resolution | 2.0Å |
| Reference | AUTH K.L.CHAO,L.MUTHUKUMAR,O.HERZBERGTITL STRUCTURE OF HUMAN HYALURONIDASE-1, A HYALURONAN HYDROLYZINGTITL 2 ENZYME INVOLVED IN TUMOR GROWTH AND ANGIOGENESISREF BIOCHEMISTRY V. 46 6911 2007REFN ISSN 0006-2960PMID 17503783DOI 10.1021/BI700382G |
Variant Set Distributions
ExAC Variants
| Number Of Residues | 414 |
| Number Of SNVs | 130 |
| Number Of Permutations | 68348 |
| Optimal Distance Threshold | 8.0 |
| K Statistic | 0.026 |
| p-value | 0.935 |
COSMIC
| Number Of Residues | 414 |
| Number Of SNVs | 3 |
| Number Of Permutations | 27 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.333 |
| p-value | 0.585 |
Ripley’s K Analysis Plots
ExACCOSMIC
Variant Set Comparisons
Cosmic vs. ExAC
| Number Of ExAC SNVs | 130 |
| Number Of COSMIC SNVs | 3 |
| Optimal Distance Threshold | 14.0 |
| K Statistic | 0.226 |
| p-value | 0.526 |
Mapped Variants
[+] ExAC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:50340317 | G>D | A:24 | (36.78, -40.98, -1.02) | |
| 3:50340301 | N>K | A:29 | (46.82, -43.52, 0.94) | |
| 3:50340296 | P>H | A:31 | (43.29, -37.26, 1.82) | |
| 3:50340285 | rs142667148 | V>I | A:35 | (46.72, -31.94, -10.14) |
| 3:50340280 | W>C | A:36 | (52.34, -29.31, -12.02) | |
| 3:50340278 | N>S | A:37 | (47.43, -28.26, -15.03) | |
| 3:50340263 | W>L | A:42 | (57.72, -26.18, -24.71) | |
| 3:50340236 | V>A | A:51 | (60.60, -29.56, -13.72) | |
| 3:50340237 | V>M | A:51 | (60.60, -29.56, -13.72) | |
| 3:50340233 | D>G | A:52 | (60.76, -32.78, -9.87) | |
| 3:50340219 | COSM3940579 | D>N | A:57 | (49.31, -37.41, -6.81) |
| 3:50340188 | R>H | A:67 | (43.01, -39.53, -24.71) | |
| 3:50340189 | R>C | A:67 | (43.01, -39.53, -24.71) | |
| 3:50340186 | G>S | A:68 | (43.83, -40.10, -19.00) | |
| 3:50340176 | M>R | A:71 | (42.45, -34.38, -15.75) | |
| 3:50340173 | T>I | A:72 | (39.38, -34.78, -18.86) | |
| 3:50340160 | S>R | A:76 | (35.08, -23.73, -24.87) | |
| 3:50340149 | G>V | A:80 | (30.17, -28.86, -28.40) | |
| 3:50340123 | G>R | A:89 | (30.83, -9.06, -30.83) | |
| 3:50340118 | rs74342080 | E>D | A:90 | (30.73, -11.19, -34.23) |
| 3:50340120 | E>K | A:90 | (30.73, -11.19, -34.23) | |
| 3:50340095 | Q>R | A:98 | (18.89, -17.33, -25.45) | |
| 3:50340081 | I>V | A:103 | (19.29, -30.48, -30.19) | |
| 3:50340073 | H>Q | A:105 | (25.59, -28.75, -27.07) | |
| 3:50340068 | A>V | A:107 | (24.89, -34.15, -30.38) | |
| 3:50340065 | rs56962018 | R>H | A:108 | (29.37, -31.26, -31.92) |
| 3:50340066 | R>C | A:108 | (29.37, -31.26, -31.92) | |
| 3:50340056 | Q>R | A:111 | (29.66, -38.08, -30.43) | |
| 3:50340033 | A>T | A:119 | (36.66, -45.15, -20.55) | |
| 3:50340030 | P>S | A:120 | (33.35, -46.49, -19.86) | |
| 3:50340026 | D>V | A:121 | (35.53, -46.98, -16.07) | |
| 3:50340011 | A>G | A:126 | (35.68, -33.64, -15.44) | |
| 3:50339994 | COSM1046478 | A>P | A:132 | (31.73, -16.36, -21.00) |
| 3:50339988 | R>C | A:134 | (29.05, -15.21, -15.14) | |
| 3:50339982 | rs144099069 | R>C | A:136 | (21.99, -16.25, -11.75) |
| 3:50339973 | F>I | A:139 | (26.85, -13.12, -10.90) | |
| 3:50339969 | N>S | A:140 | (26.66, -11.40, -16.65) | |
| 3:50339949 | Y>H | A:147 | (27.08, -12.41, -22.93) | |
| 3:50339946 | R>W | A:148 | (23.43, -7.99, -18.70) | |
| 3:50339939 | R>H | A:150 | (24.13, -8.64, -27.97) | |
| 3:50339940 | R>C | A:150 | (24.13, -8.64, -27.97) | |
| 3:50339933 | R>L | A:152 | (18.84, -6.07, -22.66) | |
| 3:50339934 | R>W | A:152 | (18.84, -6.07, -22.66) | |
| 3:50339930 | A>G | A:153 | (18.24, -7.31, -28.48) | |
| 3:50339921 | Q>P | A:156 | (13.31, -4.87, -28.63) | |
| 3:50339909 | P>L | A:160 | (9.45, -4.19, -32.00) | |
| 3:50339907 | D>N | A:161 | (6.46, -2.12, -30.48) | |
| 3:50339897 | A>V | A:164 | (12.41, -1.63, -20.95) | |
| 3:50339894 | P>R | A:165 | (10.81, -2.84, -18.08) | |
| 3:50339895 | P>S | A:165 | (10.81, -2.84, -18.08) | |
| 3:50339882 | A>V | A:169 | (12.23, -9.72, -17.69) | |
| 3:50339871 | D>N | A:173 | (13.36, -15.13, -17.46) | |
| 3:50339849 | COSM4118747 | R>Q | A:180 | (18.56, -24.39, -15.08) |
| 3:50339850 | R>W | A:180 | (18.56, -24.39, -15.08) | |
| 3:50339846 | A>V | A:181 | (19.69, -26.08, -19.92) | |
| 3:50339841 | M>V | A:183 | (25.40, -25.40, -17.45) | |
| 3:50339816 | rs147106267 | R>Q | A:191 | (25.92, -37.69, -14.47) |
| 3:50339817 | rs143791794 | R>W | A:191 | (25.92, -37.69, -14.47) |
| 3:50339807 | R>H | A:194 | (31.67, -41.91, -19.63) | |
| 3:50339808 | R>C | A:194 | (31.67, -41.91, -19.63) | |
| 3:50339801 | R>H | A:196 | (32.75, -44.80, -12.14) | |
| 3:50339802 | rs141770421 | R>C | A:196 | (32.75, -44.80, -12.14) |
| 3:50339799 | G>S | A:197 | (32.94, -38.64, -13.17) | |
| 3:50339783 | Y>C | A:202 | (37.36, -22.71, -13.64) | |
| 3:50339778 | F>L | A:204 | (31.05, -22.15, -11.19) | |
| 3:50339751 | COSM1046476 | L>V | A:213 | (40.81, -1.95, -1.88) |
| 3:50339748 | S>G | A:214 | (37.88, -2.15, 2.27) | |
| 3:50339732 | G>D | A:219 | (36.12, -12.33, 2.74) | |
| 3:50339733 | G>S | A:219 | (36.12, -12.33, 2.74) | |
| 3:50339711 | R>H | A:226 | (25.89, -15.63, 0.69) | |
| 3:50339712 | COSM3595561 | R>C | A:226 | (25.89, -15.63, 0.69) |
| 3:50339709 | rs143176318 | A>T | A:227 | (21.62, -15.80, -2.80) |
| 3:50339706 | Q>K | A:228 | (22.22, -15.11, -6.86) | |
| 3:50339684 | L>P | A:235 | (25.06, -26.22, -10.99) | |
| 3:50339669 | COSM1734771 | R>H | A:240 | (28.33, -35.58, -9.28) |
| 3:50339670 | COSM1210180 | R>C | A:240 | (28.33, -35.58, -9.28) |
| 3:50339667 | COSM4149975 | A>P | A:241 | (32.83, -31.82, -8.54) |
| 3:50339654 | COSM2153863 | S>N | A:245 | (39.13, -20.12, -8.22) |
| 3:50339643 | rs138951582 | P>S | A:249 | (44.65, -11.34, -6.98) |
| 3:50339640 | rs142160277 | A>T | A:250 | (48.24, -8.94, -7.68) |
| 3:50339622 | rs116482870 | G>R | A:256 | (46.81, -9.88, 4.93) |
| 3:50339596 | H>Q | A:264 | (35.45, -16.85, 3.33) | |
| 3:50339594 | R>H | A:265 | (36.84, -18.00, -3.24) | |
| 3:50339592 | V>M | A:266 | (36.96, -23.19, 0.10) | |
| 3:50339586 | rs104893743 | E>K | A:268 | (30.35, -20.72, -0.83) |
| 3:50339579 | F>S | A:270 | (32.90, -27.52, 1.40) | |
| 3:50339576 | rs150255984 | R>H | A:271 | (26.91, -22.52, 1.32) |
| 3:50339558 | G>A | A:277 | (22.64, -32.77, -0.67) | |
| 3:50339554 | D>E | A:278 | (26.51, -33.85, -1.93) | |
| 3:50339555 | D>V | A:278 | (26.51, -33.85, -1.93) | |
| 3:50339549 | N>S | A:280 | (30.23, -36.25, 0.63) | |
| 3:50339543 | P>L | A:282 | (34.22, -33.74, -4.38) | |
| 3:50339541 | V>L | A:283 | (36.11, -29.57, -3.05) | |
| 3:50339538 | L>V | A:284 | (39.13, -30.25, -6.35) | |
| 3:50339522 | I>N | A:289 | (52.90, -21.22, -8.37) | |
| 3:50339516 | Y>C | A:291 | (50.69, -13.29, -6.31) | |
| 3:50339510 | COSM1743534 | T>M | A:293 | (48.41, -11.81, -14.16) |
| 3:50339504 | N>T | A:295 | (56.59, -13.20, -13.00) | |
| 3:50339502 | H>D | A:296 | (55.50, -11.64, -9.20) | |
| 3:50338489 | L>P | A:307 | (47.66, -25.22, -1.36) | |
| 3:50338487 | G>R | A:308 | (46.49, -25.36, 3.11) | |
| 3:50338482 | E>D | A:309 | (42.95, -22.81, 4.06) | |
| 3:50338484 | COSM1753294 | E>K | A:309 | (42.95, -22.81, 4.06) |
| 3:50338480 | rs140887083 | S>T | A:310 | (42.29, -26.06, 0.96) |
| 3:50338477 | A>V | A:311 | (43.40, -29.03, 3.29) | |
| 3:50338478 | A>T | A:311 | (43.40, -29.03, 3.29) | |
| 3:50338470 | Q>H | A:313 | (38.38, -26.04, 4.59) | |
| 3:50338469 | G>R | A:314 | (38.81, -30.88, 3.14) | |
| 3:50338446 | W>C | A:321 | (46.55, -22.58, -14.77) | |
| 3:50338448 | W>G | A:321 | (46.55, -22.58, -14.77) | |
| 3:50338426 | R>T | A:328 | (56.67, -19.01, -24.23) | |
| 3:50338224 | C>Y | A:333 | (61.30, -23.09, -16.97) | |
| 3:50338203 | M>T | A:340 | (59.50, -27.53, -7.44) | |
| 3:50338204 | M>V | A:340 | (59.50, -27.53, -7.44) | |
| 3:50338189 | G>R | A:345 | (57.74, -29.62, -3.01) | |
| 3:50338171 | V>M | A:351 | (50.15, -30.75, 2.66) | |
| 3:50338164 | S>N | A:353 | (51.86, -36.10, 4.58) | |
| 3:50338129 | COSM1538167 | G>S | A:365 | (41.50, -43.82, 7.58) |
| 3:50338125 | H>R | A:366 | (38.27, -45.03, 7.40) | |
| 3:50338120 | R>C | A:368 | (38.80, -36.00, 3.95) | |
| 3:50338114 | V>I | A:370 | (38.20, -30.80, 9.25) | |
| 3:50338110 | COSM4118745 | R>H | A:371 | (40.20, -25.60, 9.99) |
| 3:50338111 | R>C | A:371 | (40.20, -25.60, 9.99) | |
| 3:50338107 | R>H | A:372 | (37.79, -29.08, 16.18) | |
| 3:50338108 | R>C | A:372 | (37.79, -29.08, 16.18) | |
| 3:50338090 | A>T | A:378 | (44.53, -24.67, 11.45) | |
| 3:50338084 | L>V | A:380 | (46.98, -30.47, 8.00) | |
| 3:50338078 | L>F | A:382 | (54.90, -32.23, 8.67) | |
| 3:50338072 | P>S | A:384 | (60.07, -29.43, 11.99) | |
| 3:50338069 | A>P | A:385 | (60.99, -31.92, 15.07) | |
| 3:50338066 | S>R | A:386 | (59.13, -34.89, 13.88) | |
| 3:50338053 | Q>R | A:390 | (65.97, -34.50, 2.99) | |
| 3:50338051 | L>F | A:391 | (66.48, -33.92, -2.58) | |
| 3:50338047 | rs117179004 | T>M | A:392 | (67.36, -38.12, -2.87) |
| 3:50338045 | rs145487411 | P>A | A:393 | (71.09, -37.94, -3.55) |
| 3:50338039 | G>R | A:395 | (67.52, -37.12, -7.87) | |
| 3:50338032 | P>L | A:397 | (62.32, -38.61, -5.19) | |
| 3:50338020 | R>Q | A:401 | (63.56, -40.06, 5.94) | |
| 3:50338021 | R>W | A:401 | (63.56, -40.06, 5.94) | |
| 3:50338018 | G>R | A:402 | (60.35, -40.05, 10.43) | |
| 3:50338008 | S>L | A:405 | (54.72, -37.21, 17.68) | |
| 3:50338003 | COSM3365238 | E>K | A:407 | (53.47, -33.03, 21.14) |
| 3:50337998 | D>E | A:408 | (52.67, -34.13, 16.49) | |
| 3:50337973 | K>Q | A:417 | (36.41, -31.94, 13.02) | |
| 3:50337966 | R>Q | A:419 | (34.64, -34.14, 6.13) | |
| 3:50337960 | Y>C | A:421 | (36.59, -40.93, 3.65) | |
| 3:50337957 | P>R | A:422 | (31.50, -42.03, 2.13) | |
| 3:50337958 | rs147470097 | P>T | A:422 | (31.50, -42.03, 2.13) |
| 3:50337955 | G>S | A:423 | (30.32, -45.23, 5.26) | |
| 3:50337945 | rs142342237 | A>G | A:426 | (30.75, -40.33, 13.23) |
| 3:50337942 | P>L | A:427 | (33.11, -39.18, 15.61) | |
| 3:50337932 | rs147678727 | E>D | A:430 | (36.21, -46.99, 14.57) |
| 3:50337934 | E>K | A:430 | (36.21, -46.99, 14.57) | |
| 3:50337930 | R>Q | A:431 | (31.77, -47.13, 14.17) | |
| 3:50337931 | COSM3974477 | R>W | A:431 | (31.77, -47.13, 14.17) |
[+] COSMIC Missense Variants
| Position | Variant | AA Change | PDB Chain Position | Structure Coordinates |
|---|---|---|---|---|
| 3:50339669 | COSM1734771 | R>H | A:240 | (28.33, -35.58, -9.28) |
| 3:50339622 | COSM446753 | G>R | A:256 | (46.81, -9.88, 4.93) |
| 3:50338484 | COSM1753294 | E>K | A:309 | (42.95, -22.81, 4.06) |